Canonical Allele Identifier: CA513361405

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1759562
• ClinVar RCV Id: RCV002394062
• dbSNP Id: rs1313958501
• gnomAD v2: 22-19752552-C-T
• gnomAD v3: 22-19765029-C-T
• gnomAD v4: 22-19765029-C-T
• MyVariant Identifiers: chr22:g.19752552C>T (hg19) ; chr22:g.19765029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765029C>T , CM000684.2:g.19765029C>T	GRCh38
NC_000022.10:g.19752552C>T , CM000684.1:g.19752552C>T	GRCh37
NC_000022.9:g.18132552C>T	NCBI36
NG_009229.1:g.13327C>T , LRG_226:g.13327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.309C>T	ENSP00000514909.1:p.Ser103=
ENST00000649276.2:c.783C>T MANE Select	ENSP00000497003.1:p.Ser261=
ENST00000329705.11:c.756C>T	ENSP00000331176.7:p.Ser252=
ENST00000332710.8:c.756C>T	ENSP00000331791.4:p.Ser252=
ENST00000359500.7:c.756C>T	ENSP00000352483.3:p.Ser252=
ENST00000621939.1:c.756C>T	ENSP00000477982.1:p.Ser252=
NM_005992.1:c.756C>T	NP_005983.1:p.Ser252=
NM_080646.1:c.756C>T	NP_542377.1:p.Ser252=
NM_080647.1:c.756C>T , LRG_226t1:c.756C>T	NP_542378.1:p.Ser252=
XM_006724312.1:c.756C>T	XP_006724375.1:p.Ser252=
XM_011530351.1:c.783C>T	XP_011528653.1:p.Ser261=
XM_006724312.2:c.756C>T	XP_006724375.1:p.Ser252=
XM_017028925.1:c.906C>T	XP_016884414.1:p.Ser302=
XM_017028926.1:c.756C>T	XP_016884415.1:p.Ser252=
XM_017028927.1:c.57C>T	XP_016884416.1:p.Ser19=
XM_017028928.1:c.906C>T	XP_016884417.1:p.Ser302=
NM_001379200.1:c.783C>T MANE Select	NP_001366129.1:p.Ser261=
NM_080646.2:c.756C>T	NP_542377.1:p.Ser252=